The
Human Genome Project is an immense enterprise. The idea of sequencing the
entire human genome was first proposed by biomedical researchers in the
mid-1980s, only a few years after the Sanger method of sequencing DNA had been
developed. Two organizations in the United States took up these proposals: the
first organization was the Department of Energy, which was interested in
finding out more about the damage caused to DNA by radiation. The second was
the National Institutes of Health, which receives money from the US government
to give to medical research projects.[7]
The groundwork for the project began in 1985 when Charles DeLisi, Director of the Office of Health and Environmental Research (OHER) at the Department of Energy (DOE), the division responsible for funding most of the life sciences and environmental research for the department, proposed a Human Genome Initiative. His interest in the project grew out of an effort to study DNA changes in the cells of atomic bomb survivors of Hiroshima and Nagasaki, and to augment the ongoing work of the Atomic Bomb Casualty Commission in its study of the biological effects of radiation exposure. The DOE also had an interest in being able to utilize high technology national laboratories and their multidisciplinary teams of scientists.
The groundwork for the project began in 1985 when Charles DeLisi, Director of the Office of Health and Environmental Research (OHER) at the Department of Energy (DOE), the division responsible for funding most of the life sciences and environmental research for the department, proposed a Human Genome Initiative. His interest in the project grew out of an effort to study DNA changes in the cells of atomic bomb survivors of Hiroshima and Nagasaki, and to augment the ongoing work of the Atomic Bomb Casualty Commission in its study of the biological effects of radiation exposure. The DOE also had an interest in being able to utilize high technology national laboratories and their multidisciplinary teams of scientists.
Soon after the initial
proposal, the OHER convened a conference in Santa Fe, New Mexico, to assess the
feasibility of a Human Genome Initiative. Following the Santa Fe conference,
DOE’s OHER announced the Human Genome Initiative. A year later, in 1987, the
Congressionally chartered DOE advisory committee, the Health and Environmental
Research Advisory Committee (HERAC), endorsed the plan for a 15-year,
multidisciplinary scientific and technological undertaking to map and sequence
the human genome. In 1990, the DOE and the
National Institutes of Health presented a joint HGP plan to Congress and the
15-year program formally began.[2]
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Congress funded both the NIH and the DOE to
embark on further exploration of this concept, and the two government agencies
formalized an agreement by signing a Memorandum of Understanding to
"coordinate research and technical activities related to the human
genome."[39] Also in 1990, recognizing the wider social implications of the HGP,
the Ethical, Legal and Social Implications (ELSI) Program was established as part
of the HGP to identify problem areas and develop solutions before newly gained
scientific information would be integrated into health care practice.[2]
By
October 1990, these two organizations: the
DOE and the National Institutes of Health, had put together a plan to begin sequencing the
human genome. Work in the United Kingdom focused initally on mapping the human
genome but, in 1992, the Wellcome Trust and the Medical Research Council agreed
to fund sequencing on a larger scale. This led to the establishment of the
Sanger Centre (now
the Wellcome Trust Sanger Institute).[7]
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James Watson was appointed to lead the NIH component, which
was dubbed the Office of Human Genome Research. The following year, the Office
of Human Genome Research evolved into the National Center for Human Genome
Research (NCHGR).
In 1990, the initial planning stage was completed with the publication of a joint research plan, "Understanding Our Genetic Inheritance: The Human Genome Project, The First Five Years, FY 1991-1995." This initial research plan set out specific goals for the first five years of what was then projected to be a 15-year research effort.[39]
In 1990, the initial planning stage was completed with the publication of a joint research plan, "Understanding Our Genetic Inheritance: The Human Genome Project, The First Five Years, FY 1991-1995." This initial research plan set out specific goals for the first five years of what was then projected to be a 15-year research effort.[39]
The
project was given 15 years and 3 billion dollars to spend on researching the
genome. Their ultimate goal was, and still is, to find all of the estimated 80
to 100 thousand human genes, as well as determine the sequence of 3 billion DNA
building block, which underlie the diversity of the human race. Early on, the
scientists concentrated on inventing the resources necessary for efficient DNA
sequencing. This included biological, instrumental, and computing resources.[40]
In 1992, Watson resigned, and Michael Gottesman was appointed acting director of the center. The following year, Francis S. Collins was named director. |
The advent and employment of improved research techniques, including the use
of restriction fragment-length polymorphisms, the polymerase chain reaction,
bacterial and yeast artificial chromosomes and pulsed-field gel
electrophoresis, enabled rapid early progress. Therefore, the 1990 plan was
updated with a new five-year plan announced in 1993 in the journal Science
(262: 43-46; 1993).
Indeed, a large part of the early work of the HGP was devoted to the development of improved technologies for accelerating the elucidation of the genome. In a 2001 article in the journal Genome Research, Collins wrote, "Building detailed genetic and physical maps, developing better, cheaper and faster technologies for handling DNA, and mapping and sequencing the more modest-sized genomes of model organisms were all critical stepping stones on the path to initiating the large-scale sequencing of the human genome."
Indeed, a large part of the early work of the HGP was devoted to the development of improved technologies for accelerating the elucidation of the genome. In a 2001 article in the journal Genome Research, Collins wrote, "Building detailed genetic and physical maps, developing better, cheaper and faster technologies for handling DNA, and mapping and sequencing the more modest-sized genomes of model organisms were all critical stepping stones on the path to initiating the large-scale sequencing of the human genome."
Also in 1993, the NCHGR established a Division of Intramural Research (DIR),
in which genome technology is developed and used to study specific diseases. By
1996, eight NIH institutes and centers had also collaborated to create the
Center for Inherited Disease Research (CIDR), for study of the genetics of
complex diseases.
In 1997, the NCHGR received full institute status at NIH, becoming the National Human Genome Research Institute in 1997, with Collins remaining as the director for the new institute. A third five-year plan was announced in 1998, again in Science, (282: 682-689; 1998). |
In June 2000 came the announcement that the majority of the human genome had
in fact been sequenced, which was followed by the publication of 90 percent of
the sequence of the genome's three billion base-pairs in the journal Nature,
in February 2001.
Surprises accompanying the sequence publication included: the relatively small number of human genes, perhaps as few as 30,000; the complex architecture of human proteins compared to their homologs - similar genes with the same functions - in, for example, roundworms and fruit flies; and the lessons to be taught by repeat sequences of DNA.[39]
In 2000, the draft version of human genome sequence was completed and it was published in 2001. In 2002, the draft version of mouse genome sequence was completed and published.The announcement of a completed draft was made in 2003, which was a beautiful moment in the history of science, since a thirteen year project had now officially ended with all its goals achieved.[41]
Now below you can see the timeline of the Human Genome Project. Click on the image to see large, high-resolution version of the image.
Surprises accompanying the sequence publication included: the relatively small number of human genes, perhaps as few as 30,000; the complex architecture of human proteins compared to their homologs - similar genes with the same functions - in, for example, roundworms and fruit flies; and the lessons to be taught by repeat sequences of DNA.[39]
In 2000, the draft version of human genome sequence was completed and it was published in 2001. In 2002, the draft version of mouse genome sequence was completed and published.The announcement of a completed draft was made in 2003, which was a beautiful moment in the history of science, since a thirteen year project had now officially ended with all its goals achieved.[41]
Now below you can see the timeline of the Human Genome Project. Click on the image to see large, high-resolution version of the image.